Editorial: Metabolic Disorders Associated With Autism Spectrum Disorders: Approaches for Intervention

Background: Autism Spectrum Disorders (ASD) as a considerable health obstacle in kids is characterized by compromised social collaboration and stereotyped behavior. Autism is triggered by an interactive impact of environmental and genetic influences. Presumably, some inborn errors of metabolism are implicated in a sector of developmental disabilities. Also, several trace elements may have an important role in human behavior and neurological development. This study was designed to verify the frequency of inherited metabolic disorders and/or trace element abnormalities in children with ASD. Methods: In a retrospective analytical study, 320 children diagnosed with ASD according to the DSM-V criteria and Childhood Autism Rating Scale criteria were enrolled in this study. Serum ammonia, blood lactate, and arterial blood gases, plasma amino acid profile by tandem mass spectrophotometry, and a urinary organic acid assay were performed in all the patients. Likewise, the estimation of a number of trace elements in the form of serum lead, mercury, copper, and plasma zinc was done in all the patients. Results: A total of 320 children with ASD, inherited metabolic disorders were identified in eight (2.5%) patients as follows: seven (2.19%) patients with phenylketonuria, and one (0.31%) patient with glutaric aciduria type 1. Regarding the trace element deficiency, sixteen (5%) patients presented low plasma zinc level, five (1.56%) children presented a high serum copper level, two (0.62%) children presented a high serum lead level and only one (0.31%) autistic child presented high serum mercury level. Electroencephalogram (EEG) abnormalities were reported in 13.12% and Magnetic Resonant Imaging (MRI) abnormalities in 8.43% of cases. Conclusion: Screening for metabolic diseases and trace elements is required in all children diagnosed with ASD irrespective of any apparent clinical attributes of metabolic complaints and trace elements discrepancies.

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Altered DNA methylation in a severe subtype of idiopathic autism: Evidence for sex differences in affected metabolic pathways

Autism ◽

10.1177/1362361320971085 ◽

2020 ◽

pp. 136236132097108

Author(s):

Valerie W Hu ◽

Yi Hong ◽

Minyi Xu ◽

Henry T Shu

Keyword(s):

Dna Methylation ◽

Sex Differences ◽

Autism Spectrum Disorders ◽

Metabolic Disorders ◽

Differential Susceptibility ◽

Autism Spectrum ◽

Differentially Methylated Genes ◽

Males And Females ◽

Gene Regulatory ◽

Spectrum Disorders

Although differences in DNA methylation have been associated with both syndromic and idiopathic autism, differential methylation has not been examined previously with respect to sex differences. The goals of this study were to (1) identify differences in the DNA methylation profiles of lymphoblastoid cell lines derived from a subgroup of severely affected individuals with idiopathic autism and their respective sex-matched siblings, (2) describe autism spectrum disorder–relevant pathways and functions that may be impacted by differentially methylated genes, and (3) investigate sex-dependent differences in methylation patterns and signaling pathways. Our results revealed significant differences in DNA methylation in cells from individuals with idiopathic autism spectrum disorders and from their unaffected sex-matched siblings. The samples were divided either by sex or by separation into discovery and validation groups. The genes in differentially methylated regions were statistically enriched in autism susceptibility genes and canonical pathways commonly associated with autism spectrum disorders, including synaptogenesis, semaphorin, and mammalian target of rapamycin signaling pathways. Differentially methylated region–associated genes in females were additionally associated with pathways that implicate mitochondrial dysfunction and metabolic disorders that may offer some protection against autism spectrum disorders. Further investigations of sex differences are required to develop a fuller understanding of the pathobiology, gene regulatory mechanisms, and differential susceptibility of males and females toward autism spectrum disorders. Lay abstract This study investigates altered DNA methylation that may contribute to autism spectrum disorders. DNA methylation is an epigenetic mechanism for regulating the level at which genes are expressed, and is thus complementary to genetics and gene expression analyses which look at the variations in gene structure and gene products in cells. Here, we identify DNA methylation differences between autistic and sex-matched non-autistic siblings, focusing on a subgroup of severely affected individuals with language impairment to reduce the clinical heterogeneity among the cases. Our results show significant differentially methylated genes between the sibling groups that are enriched in autism risk genes as well as in signaling and biochemical pathways previously associated with the pathobiology of autism spectrum disorders. Moreover, we show for the first time that these differences are in part sex dependent, with differentially methylated genes in females associated with pathways that implicate mitochondrial dysfunction and metabolic disorders that may offer some protection to females against autism spectrum disorders. Further investigations of sex differences are required to develop a fuller understanding of the pathobiology, gene regulatory mechanisms, and differential susceptibility of males and females toward autism spectrum disorders.

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Treatment Services for Individuals Diagnosed With Autism Spectrum Disorders in Quito, Ecuador

Perspectives on Global Issues in Communication Sciences and Related Disorders ◽

10.1044/gics2.1.19 ◽

2012 ◽

Vol 2 (1) ◽

pp. 19-26

Author(s):

Graciela Cárdenas González ◽

Mari Riojas Lester

Keyword(s):

Autism Spectrum Disorders ◽

Autism Spectrum ◽

Treatment Services ◽

Spectrum Disorders

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Disfluency Characteristics Observed in Young Children With Autism Spectrum Disorders: A Preliminary Report

Perspectives on Fluency and Fluency Disorders ◽

10.1044/ffd20.2.42 ◽

2010 ◽

Vol 20 (2) ◽

pp. 42-50 ◽

Cited By ~ 11

Author(s):

Laura W. Plexico ◽

Julie E. Cleary ◽

Ashlynn McAlpine ◽

Allison M. Plumb

Keyword(s):

Autism Spectrum Disorders ◽

Young Children ◽

Children With Autism ◽

Descriptive Study ◽

Autism Spectrum ◽

Typically Developing ◽

Children With Asd ◽

Young Children With Autism ◽

Spectrum Disorders ◽

Developmental Stuttering

This descriptive study evaluates the speech disfluencies of 8 verbal children between 3 and 5 years of age with autism spectrum disorders (ASD). Speech samples were collected for each child during standardized interactions. Percentage and types of disfluencies observed during speech samples are discussed. Although they did not have a clinical diagnosis of stuttering, all of the young children with ASD in this study produced disfluencies. In addition to stuttering-like disfluencies and other typical disfluencies, the children with ASD also produced atypical disfluencies, which usually are not observed in children with typically developing speech or developmental stuttering. (Yairi & Ambrose, 2005).

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Autism Spectrum Disorders and Augmentative and Alternative Communication: From Research to Practice

Perspectives on Augmentative and Alternative Communication ◽

10.1044/aac16.2.3 ◽

2007 ◽

Vol 16 (2) ◽

pp. 3-8

Author(s):

Joanne M. Cafiero ◽

Marsha Acheson ◽

Joseph E. Zins

Keyword(s):

Autism Spectrum Disorders ◽

Augmentative And Alternative Communication ◽

Autism Spectrum ◽

Alternative Communication ◽

Research To Practice ◽

Spectrum Disorders

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Aging and Autism

Perspectives on Gerontology ◽

10.1044/gero17.2.69 ◽

2012 ◽

Vol 17 (2) ◽

pp. 69-75 ◽

Cited By ~ 1

Author(s):

Pamela A. Smith

Keyword(s):

Health Care ◽

Autism Spectrum Disorders ◽

Patient Group ◽

Older Patients ◽

Geriatric Patients ◽

Recent Literature ◽

Communication Disorders ◽

Autism Spectrum ◽

Need For Support ◽

Spectrum Disorders

In this article, I will review the available recent literature about the aging population with autism, a patient group that researchers know little about and a group that is experiencing a growing need for support from communication disorders professionals. Speech-language pathologists working with geriatric patients should become familiar with this issue, as the numbers of older patients with autism spectrum disorders is likely to increase. Our profession and our health care system must prepare to meet the challenge these patients and residents will present as they age.

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